The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration is a volunteer group of clinicians, researchers, patients and their family members founded in 2011 to develop standardized response criteria for determining treatment response in NF1 and SWN clinical trials. In this talk, Dr. Merker will review the group's work on reviewing, recommending, and developing new patient reported outcomes to capture how clinical trial participants' feel and function. A special emphasis will be given to the role of REINS patient representatives in shaping the design of clinical studies and their choice of outcome measures.

NF Patients United has initiated and leading a pan-European study exploring the psychosocial burden and unmet needs of people living with NF1 and their families. The study aims to identify key gaps in support and care and to inform recommendations for public policy and future patient-centred initiatives. Conducted throughout 2026, the study’s findings and report are expected to be published in the first quarter of 2027.

Background: Neurofibromatosis type 1 (NF1) has a 50% risk of transmission to offspring. The marked variability of the condition, even within families, adds complexity to reproductive decision making for couples with NF1. Couples may accept the risk of having a child with NF1 or consider reproductive options to prevent the birth of a child with NF1, such as preimplantation genetic testing (PGT) and invasive prenatal diagnosis (PND).

Methods: Semi-structured interviews were conducted with 30 participants (16 individuals with NF1 and 14 partners). Interviews explored views on the different reproductive options and the decision-making process. Interviews were coded, and analyzed using thematic analysis.

Results: Participants were at different stages of reproductive decision making (past 5 years, n=9; currently deciding, n=4; considering future decisions, n=3 couples), with diverse reproductive choices (spontaneous pregnancy, n=1; PND, n=2; PGT, n=5; combination of these options, n=3; refrained from having children, n=2; undecided, n=3). Four main themes emerged: (1) perceived advantages and disadvantages of reproductive options; (2) understanding and misconceptions regarding NF1 and reproductive options; (3) factors influencing decisions, including perceptions of severity and variability of NF1 and the attitudes of healthcare professionals, relatives, and society; and (4) the impact of having to make these choices, such as the confrontation with NF1 for both the affected and unaffected partner, and experiencing the loss of a “normal” route to parenthood.

Conclusion: These findings provide insight into couples’ perspectives on reproductive options and the complexity of reproductive decision making in NF1. Understanding these considerations support timely and tailored reproductive counseling.

Background:
The transition from pediatric to adult-oriented healthcare is a critical period for adolescents and young adults with chronic conditions. In Neurofibromatosis (NF), cognitive and neurological impairments and disease complexity may further complicate transition. This study explored the needs of adolescents and young adults with NF and their families to inform the co-creation of a disease-specific transition concept.

Methods:
A participatory patient and public involvement and engagement (PPIE) approach was applied. In close cooperation between the Austrian Patient Organisation NF-Kinder and the paediatric Neurofibromatosis expertise centre (Medical University of Vienna) three co-creation workshops with patients and carers were conducted . Discussions explored transition-related needs, expectations, and required support materials. Audio recordings were transcribed and analysed using combined qualitative content analysis (Kuckartz & Rädiker, 2024).

Results:
Twenty-eight participants contributed to the workshops (n=6 patients between 14-17y.; n=8 patients between 18-39y.; n=14 parents/siblings). During the analysis, 709 segments of the transcript were coded. Six overarching categories were identified. Three reflected the phases of the transition process: (1) preparation for transition (23.4%), (2) the transfer consultation (15.6%), and (3) care within the adult healthcare system (22.9%). The remaining categories addressed (4) general needs throughout the transition process (6.2%), (5) transition materials and resources (24.5%), and (6) biographical and disease-related aspects (7.1%).

Conclusion:
The findings demonstrate the need for a disease-specific, patient-centred transition concept for adolescents and young adults with NF. Future research should evaluate the feasibility and effectiveness of the resulting transition concept in clinical practice.